| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1736 |
Name | DKC1 |
Synonymous | CBF5|DKC|DKCX|NAP57|NOLA4|XAP101;dyskeratosis congenita 1, dyskerin;DKC1;dyskeratosis congenita 1, dyskerin |
Definition | CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|cbf5p homolog|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for DKC1 | ||
PCGP somatic mutation [Top] | ||
There is no record for DKC1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1498A>T; p.K500*; |
liver | carcinoma |
c.850C>T; p.R284*; |
haematopoietic_and_lymphoid_tissue; tonsil | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1498A>T; p.K500*; |
liver | carcinoma |
c.971A>G; p.E324G; |
liver | carcinoma |
c.583C>T; p.R195*; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.548G>A; p.R183Q; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.358C>A; p.H120N; |
large_intestine; colon | adenoma |
c.634A>T; p.R212*; |
breast | carcinoma |
c.309T>C; p.H103H; |
lung | carcinoma; small_cell_carcinoma |
c.217G>T; p.A73S; |
autonomic_ganglia | neuroblastoma |
c.1036G>A; p.A346T; |
lung | carcinoma; adenocarcinoma |
c.762G>C; p.M254I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.121G>T; p.E41*; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.210A>G; p.T70T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.857T>C; p.V286A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.763A>G; p.S255G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1393T>C; p.L465L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.210A>G; p.T70T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.216T>C; p.L72L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1331C>T; p.T444I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1297A>C; p.K433Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1494G>T; p.K498N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.58A>G; p.K20E; |
breast | carcinoma |
c.1354G>A; p.E452K; |
breast | carcinoma |
c.39T>G; p.H13Q; |
breast | carcinoma |
c.1492_1494delAAG; p.K505delK; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.329G>A; p.R110Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.797T>C; p.V266A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.404G>A; p.C135Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.660T>C; p.C220C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1418G>T; p.S473I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118G>T; p.R373I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.422G>A; p.R141H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1317C>T; p.A439A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1334C>T; p.A445V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.55C>T; p.R19W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.90A>G; p.I30M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1305G>A; p.P435P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.493G>T; p.G165W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.324G>C; p.W108C; |
prostate | carcinoma; adenocarcinoma |
c.622G>A; p.D208N; |
skin | malignant_melanoma |